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Defining TCRγδ lymphoproliferative disorders by combined immunophenotypic and molecular evaluation

Author

Listed:
  • Antonella Teramo

    (Padova University School of Medicine
    Veneto Institute of Molecular Medicine (VIMM))

  • Andrea Binatti

    (University of Padova)

  • Elena Ciabatti

    (University of Pisa)

  • Gianluca Schiavoni

    (University and Hospital of Perugia)

  • Giulia Tarrini

    (University of Pisa)

  • Gregorio Barilà

    (Padova University School of Medicine
    Veneto Institute of Molecular Medicine (VIMM))

  • Giulia Calabretto

    (Padova University School of Medicine
    Veneto Institute of Molecular Medicine (VIMM))

  • Cristina Vicenzetto

    (Padova University School of Medicine
    Veneto Institute of Molecular Medicine (VIMM))

  • Vanessa Rebecca Gasparini

    (Padova University School of Medicine
    Veneto Institute of Molecular Medicine (VIMM))

  • Monica Facco

    (Padova University School of Medicine
    Veneto Institute of Molecular Medicine (VIMM))

  • Iacopo Petrini

    (University of Pisa)

  • Roberto Grossi

    (University of Pisa)

  • Nadia Pisanti

    (University of Pisa)

  • Stefania Bortoluzzi

    (University of Padova
    University of Padova)

  • Brunangelo Falini

    (University and Hospital of Perugia)

  • Enrico Tiacci

    (University and Hospital of Perugia)

  • Sara Galimberti

    (University of Pisa)

  • Gianpietro Semenzato

    (Padova University School of Medicine
    Veneto Institute of Molecular Medicine (VIMM))

  • Renato Zambello

    (Padova University School of Medicine
    Veneto Institute of Molecular Medicine (VIMM))

Abstract

Tγδ large granular lymphocyte leukemia (Tγδ LGLL) is a rare lymphoproliferative disease, scantily described in literature. A deep-analysis, in an initial cohort of 9 Tγδ LGLL compared to 23 healthy controls, shows that Tγδ LGLL dominant clonotypes are mainly public and exhibit different V-(D)-J γ/δ usage between patients with symptomatic and indolent Tγδ neoplasm. Moreover, some clonotypes share the same rearranged sequence. Data obtained in an enlarged cohort (n = 36) indicate the importance of a combined evaluation of immunophenotype and STAT mutational profile for the correct management of patients with Tγδ cell expansions. In fact, we observe an association between Vδ2/Vγ9 clonality and indolent course, while Vδ2/Vγ9 negativity correlates with symptomatic disease. Moreover, the 7 patients with STAT3 mutations have neutropenia and a CD56-/Vδ2- phenotype, and the 3 cases with STAT5B mutations display an asymptomatic clinical course and CD56/Vδ2 expression. All these data indicate that biological characterization is needed for Tγδ-cell neoplasm definition.

Suggested Citation

  • Antonella Teramo & Andrea Binatti & Elena Ciabatti & Gianluca Schiavoni & Giulia Tarrini & Gregorio Barilà & Giulia Calabretto & Cristina Vicenzetto & Vanessa Rebecca Gasparini & Monica Facco & Iacopo, 2022. "Defining TCRγδ lymphoproliferative disorders by combined immunophenotypic and molecular evaluation," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-31015-x
    DOI: 10.1038/s41467-022-31015-x
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    References listed on IDEAS

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    1. Mikhail Shugay & Dmitriy V Bagaev & Maria A Turchaninova & Dmitriy A Bolotin & Olga V Britanova & Ekaterina V Putintseva & Mikhail V Pogorelyy & Vadim I Nazarov & Ivan V Zvyagin & Vitalina I Kirgizova, 2015. "VDJtools: Unifying Post-analysis of T Cell Receptor Repertoires," PLOS Computational Biology, Public Library of Science, vol. 11(11), pages 1-16, November.
    2. Martin S. Davey & Carrie R. Willcox & Stephen P. Joyce & Kristin Ladell & Sofya A. Kasatskaya & James E. McLaren & Stuart Hunter & Mahboob Salim & Fiyaz Mohammed & David A. Price & Dmitriy M. Chudakov, 2017. "Clonal selection in the human Vδ1 T cell repertoire indicates γδ TCR-dependent adaptive immune surveillance," Nature Communications, Nature, vol. 8(1), pages 1-15, April.
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